Updates

July 1, 2020July 1, 2020
SD-101 Cream Lacks Wound Healing Superiority in Phase 3 Trial, Study Reports

The topical cream SD-101 failed to improve wound healing in a Phase 3 trial in people with epidermolysis bullosa (EB), a study reports. The ... Read more
June 24, 2020June 24, 2020
2 New Mutations Linked to Epidermolysis Bullosa Pruriginosa in Case Study

Two novel mutations in the COL7A1 gene have been linked to epidermolysis bullosa pruriginosa (EBP), which is characterized by severe itching of the skin, ... Read more
June 22, 2020June 22, 2020
Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization ... Read more
June 17, 2020June 17, 2020
CRISPR/Cas9 Gene Editing May Correct Genetic Defect in DEB, Study Suggests

A CRISPR/Cas9-based gene editing strategy was able to restore production of type VII collagen protein (C7) in skin cells from a patient with severe ... Read more
June 10, 2020June 10, 2020
Coalition Will Address Racial Disparities in Rare Disease Communities

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting ... Read more

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January 23, 2018January 23, 2018

Factors Beyond COL7A1 Mutations May Contribute to Dystrophic EB Forms, Study Suggests

A study from Spain has raised the possibility that the development of dystrophic epidermolysis bullosa (DEB) could be attributable to additional factors besides mutations in the COL7A1 gene. Researchers reached this conclusion after studying three unrelated patients with different forms of ... Read more

Updates

SD-101 Cream Lacks Wound Healing Superiority in Phase 3 Trial, Study Reports

2 New Mutations Linked to Epidermolysis Bullosa Pruriginosa in Case Study

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

CRISPR/Cas9 Gene Editing May Correct Genetic Defect in DEB, Study Suggests

Coalition Will Address Racial Disparities in Rare Disease Communities

Subscribe to our mailing list

Collaboration Seeks Treatments for Diseases Caused by Nonsense Mutations

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

PTR-01 Shows Signs of Efficacy in RDEB Patients, Early Trial Data Reveal

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Gentamicin Promotes Wound Closure in Severe JEB Patients, Phase 1/2 Trial Shows

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

EMA Names CRISPR-Cas9 Gene Editing Therapy an Orphan Drug for RDEB

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

Phase 3 Trial of Gene Therapy B-VEC for DEB Expected to Start by June

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Cannabinoid Cream PPP004 Receives FDA Orphan Drug Designation to Treat EB

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

Oral Dapsone Can Lead to Rapid, Sustained Improvement in Inherited EB, Case Report Shows

Early Study of RDEB Gene Therapy Using SkinGun as Delivery Vehicle

Phase 1 Trial of EB Cannabinol Cream Completes Treatment in Healthy Volunteers

NORD’s Advice on COVID-19: You’re Stronger Than You Think

$75M Funding to Advance Gene Therapy for RDEB Entering Phase 3 Trial

NORD Partners with ‘Sing Me a Story’ for July 18–20 Living Rare Forum

Phase 1 Trial of EB Cannabinol Cream on Track Despite COVID-19, InMed Says

Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19

First Patient Treated in Phase 3 Trial of EB-101 Cell Therapy for RDEB

I’m Learning to Be Proud of My Body

Factors Beyond COL7A1 Mutations May Contribute to Dystrophic EB Forms, Study Suggests

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SD-101 Cream Lacks Wound Healing Superiority in Phase 3 Trial, Study Reports

2 New Mutations Linked to Epidermolysis Bullosa Pruriginosa in Case Study

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

CRISPR/Cas9 Gene Editing May Correct Genetic Defect in DEB, Study Suggests

Coalition Will Address Racial Disparities in Rare Disease Communities

Subscribe to our mailing list

Collaboration Seeks Treatments for Diseases Caused by Nonsense Mutations

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

PTR-01 Shows Signs of Efficacy in RDEB Patients, Early Trial Data Reveal

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

Gentamicin Promotes Wound Closure in Severe JEB Patients, Phase 1/2 Trial Shows

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

EMA Names CRISPR-Cas9 Gene Editing Therapy an Orphan Drug for RDEB

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

Phase 3 Trial of Gene Therapy B-VEC for DEB Expected to Start by June

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Cannabinoid Cream PPP004 Receives FDA Orphan Drug Designation to Treat EB

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

Oral Dapsone Can Lead to Rapid, Sustained Improvement in Inherited EB, Case Report Shows

Early Study of RDEB Gene Therapy Using SkinGun as Delivery Vehicle

Phase 1 Trial of EB Cannabinol Cream Completes Treatment in Healthy Volunteers

NORD’s Advice on COVID-19: You’re Stronger Than You Think

$75M Funding to Advance Gene Therapy for RDEB Entering Phase 3 Trial

NORD Partners with ‘Sing Me a Story’ for July 18–20 Living Rare Forum

Phase 1 Trial of EB Cannabinol Cream on Track Despite COVID-19, InMed Says

Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19

First Patient Treated in Phase 3 Trial of EB-101 Cell Therapy for RDEB

I’m Learning to Be Proud of My Body

Pin It on Pinterest